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Results 1 - 10 of 15 for Congenital heart "defects," multiple "types," 6
  1. Critical congenital heart disease 
    ... Testing Registry: Congenital heart disease Genetic Testing Registry: Congenital heart defects, multiple types, 6 Genetic Testing Registry: Ebstein anomaly Genetic Testing Registry: ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  2. 48,XXYY syndrome 
    ... thin tooth enamel, crowded or misaligned teeth, and multiple ... congenital heart defects, and an inflammatory condition in the throat ( ...
    https://medlineplus.gov/genetics/condition/48xxyy-syndrome - Genetics
  3. Spinal muscular atrophy 
    ... respiratory failure. Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital).Spinal muscular atrophy type I (also called Werdnig- ...
    https://medlineplus.gov/genetics/condition/spinal-muscular-atrophy - Genetics
  4. Abdominal wall defect 
    ... be born prematurely. Individuals with omphalocele frequently have multiple birth defects, such as a congenital heart defect. Additionally, underdevelopment of the lungs is often ...
    https://medlineplus.gov/genetics/condition/abdominal-wall-defect - Genetics
  5. Multiple pterygium syndrome 
    ... of the neck (cystic hygroma). Individuals with this type have severe arthrogryposis. Lethal multiple pterygium syndrome is associated with abnormalities such as underdevelopment (hypoplasia) of the heart, lung, or brain; twisting of the intestines (intestinal ...
    https://medlineplus.gov/.../condition/multiple-pterygium-syndrome - Genetics
  6. Congenital diaphragmatic hernia 
    ... several genes.About 25 percent of individuals with congenital diaphragmatic ... multiple abnormalities likely result from a common underlying disruption ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  7. CHST3-related skeletal dysplasia 
    ... limited to the bones and joints; however, minor heart defects have been reported ... dislocations. Recently, researchers have proposed the umbrella term ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  8. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome 
    ... affected individuals also have heart abnormalities, such as congenital heart defects or heart rhythm abnormalities (arrhythmias). In addition, individuals ...
    https://medlineplus.gov/...thic-mitochondrial-dna-depletion-syndrome - Genetics
  9. Microphthalmia with linear skin defects syndrome 
    ... Syndromic microphthalmia-7 Genetic Testing Registry: Linear skin defects with multiple congenital anomalies 1 Microphthalmia with linear skin defects syndrome ...
    https://medlineplus.gov/...thalmia-with-linear-skin-defects-syndrome - Genetics
  10. Noonan syndrome 
    ... with Noonan syndrome have some form of critical congenital heart disease. The most common heart defect in these individuals is a narrowing of the ...
    https://medlineplus.gov/genetics/condition/noonan-syndrome - Genetics
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